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FLASH GENE
Symbol CYP46A1 contributors: shn - updated : 14-06-2010
HGNC name cytochrome P450, family 46, subfamily A, polypeptide 1
HGNC id 2641
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
  • to Alzheimer disease
  • rs754203 polymorphism is associated to primary open-angle glaucoma
  • Variant & Polymorphism SNP rs754203 polymorphism increasing the risk of Alzheimer's disease in a Chinese population
    Candidate gene candidate for retinal pathologies like age-related macular degeneration or glaucomas
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Cyp46a1-/- mice display unchanged hepatic cholesterol and bile acid metabolism parameters while the synthesis of new cholesterol is reduced by 40% in the brain